Canonical Allele Identifier: CA402064769

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21511100T>A (hg19) ; chr18:g.23931136T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23931136T>A , CM000680.2:g.23931136T>A	GRCh38
NC_000018.9:g.21511100T>A , CM000680.1:g.21511100T>A	GRCh37
NC_000018.8:g.19765098T>A	NCBI36
NG_007853.2:g.246539T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.3684T>A MANE Plus Clinical	ENSP00000269217.5:p.Phe1228Leu
ENST00000313654.14:c.8511T>A MANE Select	ENSP00000324532.8:p.Phe2837Leu
ENST00000649721.1:c.5106T>A	ENSP00000497885.1:p.Phe1702Leu
ENST00000269217.10:c.3684T>A	ENSP00000269217.5:p.Phe1228Leu
ENST00000313654.13:c.8511T>A	ENSP00000324532.8:p.Phe2837Leu
ENST00000399516.7:c.8343T>A	ENSP00000382432.2:p.Phe2781Leu
ENST00000586751.5:c.3289T>A
ENST00000587184.5:c.3516T>A	ENSP00000466557.1:p.Phe1172Leu
ENST00000588164.2:c.216T>A	ENSP00000467473.2:p.Phe72Leu
ENST00000588770.5:n.3089T>A
NM_000227.4:c.3684T>A	NP_000218.3:p.Phe1228Leu
NM_001127717.2:c.8343T>A	NP_001121189.2:p.Phe2781Leu
NM_001127718.2:c.3516T>A	NP_001121190.2:p.Phe1172Leu
NM_198129.2:c.8511T>A	NP_937762.2:p.Phe2837Leu
XM_011525978.1:c.8538T>A	XP_011524280.1:p.Phe2846Leu
XM_011525979.1:c.8529T>A	XP_011524281.1:p.Phe2843Leu
XM_011525980.1:c.8520T>A	XP_011524282.1:p.Phe2840Leu
XM_011525981.1:c.8406T>A	XP_011524283.1:p.Phe2802Leu
XM_011525982.1:c.8241T>A	XP_011524284.1:p.Phe2747Leu
XM_011525978.2:c.8538T>A	XP_011524280.1:p.Phe2846Leu
XM_011525979.2:c.8529T>A	XP_011524281.1:p.Phe2843Leu
XM_011525980.2:c.8520T>A	XP_011524282.1:p.Phe2840Leu
XM_011525981.2:c.8406T>A	XP_011524283.1:p.Phe2802Leu
XM_011525982.2:c.8241T>A	XP_011524284.1:p.Phe2747Leu
XM_017025743.1:c.6390T>A	XP_016881232.1:p.Phe2130Leu
XM_017025744.1:c.4080T>A	XP_016881233.1:p.Phe1360Leu
XR_001753199.1:n.8779T>A
NM_000227.5:c.3684T>A	NP_000218.3:p.Phe1228Leu
NM_001127717.3:c.8343T>A	NP_001121189.2:p.Phe2781Leu
NM_001127718.3:c.3516T>A	NP_001121190.2:p.Phe1172Leu
NM_198129.3:c.8511T>A	NP_937762.2:p.Phe2837Leu
NM_000227.6:c.3684T>A MANE Plus Clinical	NP_000218.3:p.Phe1228Leu
NM_001127717.4:c.8343T>A	NP_001121189.2:p.Phe2781Leu
NM_001127718.4:c.3516T>A	NP_001121190.2:p.Phe1172Leu
NM_198129.4:c.8511T>A MANE Select	NP_937762.2:p.Phe2837Leu